Endocrine Abnormalities Research Articles

Anti-Müllerian Hormone Level Determinants among Non-Polycystic-Ovary-Syndrome Women Undergoing In Vitro Fertilization: A Retrospective Cross-Sectional Study.

Background and Objectives: The anti-Müllerian hormone (AMH) is a crucial biomarker in regulating ovarian follicle development and female fertility. AMH levels predict ovarian responses in in vitro fertilization (IVF) cycles, helping clinicians tailor treatment strategies. This study aims to determine whether thyroid autoimmunity, age, body mass index (BMI), sexual hormone levels, and 25-hydroxyvitamin D levels influence serum AMH in non-polycystic-ovary-syndrome (PCOS) euthyroid women. Materials and Methods: This retrospective cross-sectional study examined 52 female patients at Zygota Fertility Clinic between 2018 and 2022. Women aged 20-45 years with regular menstrual cycles were included, while conditions such as abnormal thyroid-stimulating hormone (TSH) levels, PCOS, and systemic autoimmune diseases were excluded. A number of parameters were measured in the study, including the subjects' age, BMI, 25-hydroxyvitamin D, serum free thyroxine (fT4), TSH, various antibodies, and a range of reproductive hormones. An analysis of the relationships between AMH and other variables was conducted using Spearman's correlation coefficient, and an assessment of the impact of confounding factors on AMH levels was conducted using a multivariable linear regression model. Results: The results revealed significant negative correlations between AMH levels and age (rho: -0.484, p < 0.001) and follicle-stimulating hormone (FSH) (rho: -0.550, p < 0.001), while positive correlations existed between AMH and estradiol (rho: 0.352, p = 0.011) and total testosterone (rho: 0.542, p < 0.001). No significant correlations were found between AMH levels and BMI, LH, or 25-hydroxyvitamin D. Conclusions: In this study, ovarian reserve was influenced by age, estradiol, and total testosterone in non-PCOS euthyroid women undergoing IVF. Conversely, BMI and vitamin D status did not significantly impact AMH levels. In order to better understand and possibly manage ovarian reserve, a holistic approach is absolutely essential, taking into account age, weight, hormonal balance, nutrition, and thyroid health.

Endocrine Abnormalities and Optimization in Patients with a Fracture Nonunion

Significant advancements have been made in the management and understanding of fracture nonunions. Recently, there has been an interest in identifying modifiable risk factors in patients with nonunions. Endocrine and metabolic abnormalities have been studied for their association with the development of nonunion. Identifying these abnormalities and correcting them requires a multidisciplinary approach involving the orthopaedic surgeon, primary care provider, and endocrinologist. This article discusses the various endocrine abnormalities and their association with fracture nonunion, and highlights studies that have focused on methods of endocrine optimization of patients with a nonunion.

Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice

Genes of the Sprouty family (Spry1-4) are feedback inhibitors of receptor tyrosine kinases, especially of Ret and the FGF receptors. As such, they play distinct and overlapping roles in embryo morphogenesis and are considered to be tumor suppressors in adult life. Genetic experiments in mice have defined in great detail the role of these genes during embryonic development, however their function in adult mice is less clearly established. Here we generate adult-onset, whole body Spry1/2/4 triple knockout mice. Tumor incidence in triple mutant mice is comparable to that of wild type littermates of up to one year of age, indicating that Sprouty loss per se is not sufficient to initiate tumorigenesis. On the other hand, triple knockout mice do not gain weight as they age, show less visceral fat, and have lower plasma glucose levels than wild type littermates, despite showing similar food intake and slightly reduced motor function. They also show alopecia, eyelid inflammation, and mild hyperthyroidism. Finally, triple knockout mice present phosphaturia and hypophosphatemia, suggesting exacerbated signaling downstream of FGF23. In conclusion, triple knockout mice develop a series of endocrine abnormalities but do not show increased tumor incidence.

Microbiome and metabolome analyses indicate variations in the gut microbiota that disrupt regulation of appetite.

The mechanism connecting gut microbiota to appetite regulation is not yet fully understood. This study identifies specific microbial community and metabolites that may influence appetite regulation. In the initial phase of the study, mice were administered a broad-spectrum antibiotic cocktail (ABX) for 10 days. The treatment significantly reduced gut microbes and disrupted the metabolism of arginine and tryptophan. Consequently, ABX-treated mice demonstrated a notable reduction in feed consumption. The hypothalamic expression levels of CART and POMC, two key anorexigenic factors, were significantly increased, while orexigenic factors, such as NPY and AGRP, were decreased. Notably, the levels of appetite-suppressing hormone cholecystokinin in the blood were significantly elevated. In the second phase, control mice were maintained, while the ABX-treated mice received saline, probiotics, and short-chain fatty acids (SCFAs) for an additional 10 days to restore their gut microbiota. The microbiota reconstructed by probiotic and SCFA treatments were quite similar, while microbiota of the naturally recovering mice demonstrated greater resemblance to that of the control mice. Notably, the abundance of Akkermansia and Bacteroides genera significantly increased in the reconstructed microbiota. Moreover, microbiota reconstruction corrected the disrupted arginine and tryptophan metabolism and the abnormal peripheral hormone levels caused by ABX treatment. Among the groups, SCFA-treated mice had the highest feed intake and NPY expression. Our findings indicate that gut microbes, especially Akkermansia, regulate arginine and tryptophan metabolism, thereby influencing appetite through the microbe-gut-brain axis.

Endocrine Disorders in Nephrotic Syndrome-A Comprehensive Review.

Nephrotic syndrome is a clinical syndrome characterized by massive proteinuria, called nephrotic range proteinuria (over 3.5 g per day in adults or 40 mg/m2 per hour in children), hypoalbuminemia, oncotic edema, and hyperlipidemia, with an increasing incidence over several years. Nephrotic syndrome carries severe morbidity and mortality risk. The main pathophysiological event in nephrotic syndrome is increased glomerular permeability due to immunological, paraneoplastic, genetic, or infective triggers. Because of the marked increase in the glomerular permeability to macromolecules and the associated urinary loss of albumins and hormone-binding proteins, many metabolic and endocrine abnormalities are present. Some of them are well known, such as overt or subclinical hypothyroidism, growth hormone depletion, lack of testosterone, vitamin D, and calcium deficiency. The exact prevalence of these disorders is unknown because of the complexity of the human endocrine system and the differences in their prevalence. This review aims to comprehensively analyze all potential endocrine and hormonal complications of nephrotic syndrome and, vice versa, possible kidney complications of endocrine diseases that might remain unrecognized in everyday clinical practice.

Adefovir Dipivoxil-induced Osteomalacia: A Rare Case of Misdiagnosis due to Concurrent Thyroid Tumor

Background: Both the administration of adefovir dipivoxil and the elevation of primary parathyroid hormone can result in serum electrolyte abnormalities and the development of metabolic bone disease. Adefovir dipivoxil-induced osteomalacia is a clinical disease that is rarely seen and often leads to misdiagnosis. Case presentation: In this case, the patient developed osteomalacia due to renal tubular toxicity caused by chronic use of adefovir dipivoxil. The drug indirectly affected the secretion of parathyroid hormone (PTH). Coincidentally, the patient also had a tumor below the thyroid, leading to a misdiagnosis. Conclusion: Osteomalacia caused by adefovir dipivoxil is a clinically rare disease, and it is important not to overlook it as it may lead to misdiagnosis. Hence, in cases where laboratory tests reveal abnormal parathyroid hormone levels, it is crucial to inquire about the patient s detailed medication history. This is applicable even in situations where there is evidence suggesting primary hyperparathyroidism.

Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]

To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia. A 13-year-old child who was admitted to Lianyungang Maternal and Child Health Care Hospital on February 7, 2023 for primary amenorrhoea and occasional abdominal pain was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected. G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. "Pseudodual centromere isochromosome X" and "psu idic(X)" were used as keywords to search the CNKI, Wanfang and PubMed databases, and the search period was set as from January 1, 2002 to June 1, 2023. Relevant literature on the structural abnormality of X chromosome was searched and analyzed retrospectively. The child has a height of 153 cm and weighed 45 kg. She has no obvious facial dysmorphism. Laboratory tests showed that she had higher FSH and luteinizing hormone, and lower E2. Ultrasonography showed that she had small ovaries and rudimentary uterus. She was found to have a karyotype of 46,X,psu idic(X)(q21.3)[40]/mos 45,X[3], whilst both of her parents had a normal karyotype. CNV-seq showed that she had a 63.27 Mb deletion in Xq21.32q28 and a 91.59 Mb duplication in Xp22.33q21.32 (mosaicism rate = 74%). A total of 11 relevant literature were retrieved. Clinical phenotypes of patients with similar structural chromosomal abnormalities were diverse, which was closely related to the mosaicism rate of the 45,X karyotype and the location of the breaking point. 46,X,psu idic(X)(q21.3)/45,X probably underlay the dysplasia of uterus and ovary and sex hormone abnormalities in this child, while her height was spared. Deletion of Xq21.32q28 is a key factor leading to Turner syndrome-like phenotype such as rudimentary uterus and ovarian dysplasia.

(Nanocarbons Division Poster Award, Third Place) Development of an Optical Probe for the Detection of Steroid Hormones

Hormones play major roles in several biological processes. Steroid hormones are crucial for reproductive maturation in women. Abnormal steroid hormones (e.g., estrogen) levels have several pathological conditions, including ovarian failure, bone loss, or increased risk for breast cancer. Thus, accurate and precise detection of steroid hormone levels is crucial for timely health interventions. The current gold standard for steroid hormone detection is immunoassays. Optical measurement technologies are promising alternatives to traditional immunoassays. Optical tools could provide a novel platform for direct, sensitive, and specific measurements of target analytes. Due to their non-photobleaching near-infrared fluorescence, high optical sensitivity, high stability, and sizes within the nanoscale, photoluminescent single-walled carbon nanotubes have great potential for a rapid, sensitive, and specific detection. Here, we investigate an optical biosensor fabricated with SWCNT for hormone detection in biofluids.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience.

Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort. A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities. The auxologic data, pubertal development, and, based on their clinical symptoms, hormonal profiles were obtained. Twelve of the cohort of 26 patients (46%) were female. In 15 of the patients (57.6%), their mitochondrial disease (MD) was caused by nuclear DNA mutations (nDNA group). Four patients had Leigh syndrome, 2 patients had LHON syndrome, 2 patients had MELAS, and 1 patient had KSS clinical phenotype. The median age at diagnosis was 2.91 (0.59-16.8) years, and the median age at first endocrinologic evaluation was 4.62 (1.26-18) years. The mean height SDS was -1.34 ± 2.12, and the mean BMI SDS was -0.82 ± 1.96 for all patients. Of the 26 patients, 6 (23%) had a range of hormonal deficits. Ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency were all observed. Three of the patients were initially monitored in the endocrine clinic for hormone deficiencies but it was later determined that the hormonal abnormalities were caused by underlying mitochondrial disease. Individuals diagnosed with mitochondrial disease, particularly those with specific genetic abnormalities, are considered a high-risk group for developing hormonal deficits. Endocrine diseases could be one of the primary mitochondrial disorders' early warning symptoms.

Exploring the Effect of Thyroid Hormone on Serum Lipoprotein (a) Levels in Patients With Thyroid Hormone Dysfunction: A Systematic Review.

Genetic variations among people mainly determine the blood levels of lipoprotein (a) (Lp(a)), and it is relatively stable throughout one's lifetime. Nevertheless, there could still be other factors that control the Lp(a) level. Thyroid hormones are known to influence the serum lipid level by regulating the expression ofkeyenzymes that are involved in lipid metabolism. Both hypo and hyperthyroidism are associatedwith changes in lipid levels. Even though thyroid hormone abnormalities have been shownto alter traditional lipid parameters like low-density lipoprotein (LDL-C), its influence onLp(a) has not been established. This review aims to identify the relationship between Lp(a) and thyroid hormones by reviewing data from correlative studies and observing treatment-related Lp(a) level changes in thyroid disorders from interventional studies. We searched MEDLINE, Cochrane, and Google Scholar databases with predefined search criteria and search strategies for paper identification. Individual reviewers reviewed identified papers for selection.Finalized papers were reviewed forLp(a) levels and their responses to treatment in patients with thyroid disorders to establish the relationship betweenLp(a) and thyroid hormone.We concluded that the data were limited and sometimes contradicted one another to establish a clear relationship betweenLp(a) and thyroid hormones.Even though correlative studies data showed strong indications that overt-hypothyroidism was associated with high Lp(a) levels, thyroid hormone replacement studies did not show any significant changes inLp(a) levels compared to pre-treatment in patients with both overt-hypothyroidism and subclinical hypothyroidism. More clinical trials focusing on Lp(a) with longer periods of treatment and follow-up in thyroid patients are needed to establish the relationship between the two. The possibility of dose-related Lp(a) responses to thyroid hormone treatment should also be explored.

The Effect of Vitamin D Supplementation on Thyroid Hormone Levels in Patients With Autoimmune Thyroid Disease: A Systematic Review.

Autoimmune thyroid diseases (AITDs) pose significant challenges in clinical practice, representing one of the most common endocrine abnormalities. Vitamin D deficiency has been linked as one of the contributing factors to the etiology of AITDs. This systematic review evaluates the effects of vitamin D supplementation on thyroid-stimulating hormone (TSH), triiodothyronine (T3), and thyroxine (T4) levels in adults with AITDs. Using a PICO (population, intervention, comparison, and outcome) framework and adhering to thePreferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, seven relevant studies were identified from an initial pool of 1,469 articles. The population comprised individuals with thyroid autoimmunity, as evidenced by at least one elevated positive thyroid autoimmune marker and intervention involved the supplementation of vitamin D, regardless of the dose or method of administration. All randomized clinical trials within the last 10 years, which fit the study criteria, were included. These studies showed varying results based on follow-up duration. Short-term studies (three months or less) demonstrated no significant changes in mean TSH, T3, or T4 levels compared to the control group with vitamin D supplementation. However, all of the long-term studies (greater than three months) indicated significant improvements compared to the controlin mean TSH, T3, and T4 levels. Additionally, all long-term studies that compared TSH, T3, and T4 to baseline levels revealed significant changes by the trial's end. Despite these promising findings, the review highlights limitations, including small sample sizes, short study durations, and the need for further research to establish optimal dosing and treatment duration for vitamin D in AITD management. The overall findings suggest that vitamin D supplementation may play a part in thyroid hormone regulation in AITD, particularly with prolonged administration.

MRI changes of the pituitary gland and brain in Thalassemia major: A comprehensive review of clinical implications

Introduction: Thalassemia major is a genetic disorder characterized by chronic anemia requiring frequent blood transfusions, leading to iron overload in various organs, including the pituitary gland and brain. MRI is a pivotal tool in assessing the extent of iron deposition and its clinical consequences in these patients. Objective: To summarize the MRI findings related to pituitary and brain changes in thalassemia major and to elucidate their clinical implications based on existing literature. Methods: A comprehensive review of the literature was conducted, focusing on studies that employed MRI to investigate pituitary and brain changes in patients with thalassemia major. Data extracted from these studies included the number of patients, MRI findings, and associated clinical outcomes. Results: The review included studies published between 1998 and 2022. Key findings are as follows: Pituitary Gland Changes: Multiple studies reported reduced pituitary gland volume and signal intensity, correlating with hypogonadotropic hypogonadism (HH) and delayed puberty. Specific MRI metrics such as pituitary-to-fat signal intensity ratios (SIRs) and pituitary-R2 values were elevated in patients with HH, indicating significant iron overload. Brain Changes: Increased brain T2* values indicative of iron overload was observed. Clinical Associations: The MRI findings were consistently associated with various endocrinal abnormalities, including hypogonadism, short stature, delayed puberty, and growth hormone deficiency. Severe pituitary iron deposition and volume loss were predictive of hypogonadism. Specific studies highlighted the independent progression of iron overload in different organs, emphasizing the importance of organ-specific MRI evaluation. Additional Findings: Notably, iron chelation therapy showed potential benefits in reversing some of the endocrinal and cardiac complications associated with iron overload. Discussion and Conclusions: MRI is a valuable diagnostic tool for detecting iron overload in the pituitary gland and brain in thalassemia major patients. The findings from various studies highlight significant clinical implications, including hypogonadotropic hypogonadism, delayed puberty, and growth hormone deficiency. Regular MRI assessments, along with appropriate chelation therapy, are crucial in managing and mitigating these complications. Further research is needed to establish standardized MRI protocols and improve early diagnosis and treatment outcomes in thalassemia major.

Effects of growth hormone and sex steroid therapy on brain structure and pituitary function in turner syndrome

Introduction: Turner syndrome (TS) is a chromosomal disorder affecting approximately 1 in 2,500 live female births, characterized by the partial or complete absence of one X chromosome. This genetic anomaly leads to physical, cognitive, and endocrine abnormalities, including short stature, gonadal dysgenesis, and structural brain anomalies. Cognitive deficits in TS involve visuospatial processing, memory, and executive function, often linked to structural brain changes. Magnetic resonance imaging (MRI) has revealed significant alterations in gray and white matter volumes in various brain regions. Growth hormone (GH) and sex steroid therapies, such as estrogen and progesterone, are used to address growth and developmental delays in TS. However, their impact on brain structure and pituitary function remains an area of active research. Aim of the Review: To systematically review and synthesize findings on the effects of GH and sex steroid therapy on brain structure and pituitary function in patients with Turner syndrome. Methods: A comprehensive literature review was conducted to identify studies examining the effects of GH and sex steroid therapy on brain structure and pituitary function in TS. Data from various sources were compiled, focusing on MRI-based structural brain changes. Key parameters analyzed included sample size, findings from MRI and fMRI studies, and clinical associations. Studies were summarized and presented in a structured table format. Results: Estrogen-progesterone treatment was found to suppress pituitary gonadotropin release more effectively than estrogen alone, indicating a feedback interaction between pituitary gonadotropin release and sex steroids. MRI studies showed that TS patients exhibit smaller volumes in the hippocampus, caudate, lenticular, thalamic nuclei, and parieto-occipital brain matter, correlating with cognitive deficits. GH-IGF axis abnormalities are modulated by body composition and physical fitness, with sex hormone replacement normalizing the GH-IGF axis and improving body composition. Although GH therapy alone did not significantly improve cognitive functions, the combination of GH with oxandrolone improved working memory. Estrogen deficiency and TS are associated with slower growth in parieto-occipital regions and enhanced volume growth in basal ganglia and cerebellar areas during adolescence, underscoring the importance of estrogen replacement in brain development. Discussion: GH and sex steroid therapies significantly impact brain structure, pituitary function, and clinical outcomes in TS. GH therapy, often combined with sex steroids, improves growth and cognitive functions, particularly working memory. However, GH alone does not significantly impact overall cognitive function. The timing and combination of these therapies are crucial for optimizing outcomes. Regular monitoring and individualized treatment plans are essential to address the complex needs of TS patients. Further research is needed to explore the long-term impacts of these therapies and develop optimal treatment regimens. Conclusion: GH and sex steroid therapies are vital in managing TS contributing to improved growth, body composition, and cognitive enhancements. A multifaceted therapeutic approach and regular monitoring are crucial for optimizing treatment outcomes and quality of life for TS patients.

Bu-Shen-Ning-Xin decoction ameliorates premature ovarian insufficiency by suppressing oxidative stress through rno_circRNA_012284/rno_miR-760–3p/HBEGF pathway

BackgroundPOI (premature ovarian insufficiency) refers to premature and rapid decline of ovarian reserve function in women before the age of 40, which can be manifested as menstrual disorders, endocrine abnormalities and low fertility. Bu-Shen-Ning-Xin decoction (BSNXD) has been found to have therapeutic effects on POI. Nevertheless, how it exerts therapeutic effects remains elusive. PurposeThis research aims to clarify the pharmacological mechanisms of BSNXD. MethodsWe applied Ultra Performance Liquid Chromatography (UPLC) to identify the main components of BSNXD.4-vinylcyclohexene diepoxide(VCD)was used to induce POI models. ELISA detected the serum level of hormones. H&E staining evaluated the morphology of ovarian tissues.CircRNA and mRNA expression profiles in the ovaries of both POI rats and those treated with BSNXD were detected. Then, dysregulated circRNAs and mRNAs that were potentially altered by BSNXD were screened. Network pharmacology analysis was performed to identify drug targets of BSNXD active ingredients. A circRNA-miRNA-mRNA network and an oxidative stress(OS)-related subnetwork were constructed. Expression of rno_circRNA_012284, rno_miR-760–3p, and HBEGF(Heparin-binding epidermal growth factor-like growth factor) was measured by RT-PCR and their binding were verified by dual-luciferase reporter assays. ROS was measured through DCFH-DA fluorescence probes. The HBEGF target was selected for molecular docking with key active ingredients.Surface plasmon resonance(SPR) was applied to verify the binding ability and affinity between components and HBEGF. ResultsUPLC analysis indicated that 6 chemical compounds including berberine, paeoniflorin, morroniside,gallic acid, loganin, baicalin were identified.Elevated FSH and LH levels, suppressed E2 and AMH levels in the serum, and inhibited follicles and corpus luteums in the ovarian tissues of VCD-induced rats were notably reversed by BSNXD.In total, 992 up- and 1135 down-regulated circRNAs, and 205 up- and 243 down-regulated mRNAs were found in POI rat ovaries following BSNXD administration. Furthermore, 198 drug targets of BSNXD were identified. An OS-related and BSNXD-targeted ceRNA subnetwork composed of rno_circRNA_012284/rno_miR-760–3p/HBEGF was established. rno_circRNA_012284 and HBEGF were up-regulated and rno_miR-760–3p was down-regulated in POI ovarian granulosa cells (OGCs) after BSNXD administration. rno_circRNA_012284 was a sponge of rno_miR-760–3p to elevate HBEGF expression. Moreover, rno_circRNA_012284 overexpression alleviated POI-induced excessive ROS generation in ovarian granulosa cells, while rno_circRNA_012284 inhibition exerted the opposite effect. Finally,molecular docking speculated active ingredients of each herb acted on HBEGF to reduce the OS. SPR tests showed that Berberine,Baicalein,Quercetin,Pachymic acid,Paeoniflorin exhibited satisfying affinity with HBEGF protein. ConclusionThis study demonstrates that BSNXD ameliorates POI partly by attenuating OS in ovarian granulosa cells via rno_circRNA_012284/rno_miR-760–3p/HBEGF axis, uncovering the pharmacological mechanisms of BSNXD in alleviating POI.

Genetic landscape of thrombophilia in recurrent miscarriages.

The etiology of recurrent miscarriage (RM) is extremely heterogeneous, encompassing genetic, immunological, anatomical, endocrine, thrombophilic, infectious, and uterine abnormalities. Thrombophilia is a major contributor to pregnancy complications, potentially harming the fetus and jeopardizing the continuation of pregnancy. Therefore, successful pregnancy outcomes depend on maintaining a delicate balance between coagulation and fibrinolytic factors, crucial for ensuring the adjustment of the basal plate to facilitate adequate placental perfusion. Despite numerous studies shedding light on the role of thrombophilic factors and genetic variations in RM, the exact pathogenesis remains unclear. It is imperative to systematically rule out thrombophilia and other related factors responsible for pregnancy disorders and RMs to guide appropriate and active management strategies. Addressing thrombophilia continues to present challenges in terms of effective treatment. The current review aims to address the heterogeneity of RM as a therapeutic challenge, emphasizing the need for standardized diagnostic tests and well-designed multicenter research trials to gather robust, evidence-based data on thrombophilic causes of RM and provide effective treatment. The goal is to enhance the understanding of thrombophilic factors and genetic landscapes associated with RM through various approaches, including candidate gene studies, genome-wide association studies, and high-throughput sequencing. Meta-analyses have underscored the significance of genetic aberrations in RM, highlighting the necessity for identifying critical mutations implicated in the etiopathogenesis of miscarriages to pave the way for implementation of targeted clinical therapies.

Thyroid hormone levels in children with Prader-Willi syndrome: a randomized controlled growth hormone trial and 10-year growth hormone study.

Several endocrine abnormalities were reported in children with Prader-Willi syndrome (PWS), including hypothyroidism. Growth hormone (GH) treatment may impact the thyroid hormone axis by direct inhibition of T4 or TSH secretion or by increased peripheral conversion of free T4 (FT4) to T3. The objective of this study is to evaluate thyroid function during GH treatment in a large group of children with PWS. Serum FT4, T3, and TSH are measured in a 2-year randomized controlled GH trial (RCT) and 10-year longitudinal GH study (GH treatment with 1.0 mg/m²/day [∼0.035 mg/kg/day]). Forty-nine children with PWS were included in the 2-year RCT (median [interquartile range, IQR] age: GH group 7.44 [5.47-11.80] years, control group 6.04 [4.56-7.39] years). During the first 6 months, median (IQR) FT4 standard deviation score (SDS) decreased in the GH group from -0.84 (-1.07 to -0.62) to -1.32 (-1.57 to -1.08) (P < .001) and T3 SDS increased from 0.31 (-0.01-0.63) to 0.56 (0.32-0.79) (P = .08), while in the control group, FT4 and T3 SDS remained unchanged. In our 10-year GH study, 240 children with PWS (median [IQR] age: 1.27 (0.54-4.17) years] were included. Between 2 and 10 years, median (IQR) FT4 SDS remained unchanged, being -0.87 (-0.98 to -0.77) after 2 years and -0.88 (-1.03 to -0.74) after 10 years (P = .13). TSH SDS decreased from -0.35 (-0.50 to -0.21) after 2 years to -0.68 (-0.84 to -0.53) after 10 years (P < .001). Our findings suggest that GH treatment decreases FT4 levels, due to increased peripheral conversion of FT4 to T3 in the first months of treatment, but thereafter, FT4 and T3 normalize and remain stable during long-term GH treatment in almost all children and adolescents with PWS.

Research progress on nonsteroidal anti-inflammatory drugs in the treatment of pituitary neuroendocrine tumors.

Pituitary neuroendocrine tumor is the third most common primary intracranial tumor. Its main clinical manifestations include abnormal hormone secretion symptoms, symptoms caused by tumor compression of the surrounding pituitary tissue, pituitary stroke, and other anterior pituitary dysfunction. Its pathogenesis is yet to be fully understood. Surgical treatment is still the main treatment. Despite complete resection, 10%-20% of tumors may recur. While dopamine agonists are effective in over 90% of prolactinomas, prolonged use and individual variations can lead to increased drug resistance and a gradual decline in efficacy, which ultimately requires surgical intervention. Nonsteroidal anti-inflammatory drugs reduce the production of inflammatory mediator prostaglandins by inhibiting the activity of cyclooxygenase and exert antipyretic, analgesic, antiplatelet, and anti-inflammatory effects. In recent years, many in-depth studies have confirmed the potential of nonsteroidal anti-inflammatory drugs as a preventive and antitumor agent. It has been extensively utilized in the prevention and treatment of various types of cancer. However, their specific mechanisms of action still need to be fully elucidated. This article summarizes recent research progress on the expression of cyclooxygenase in pituitary neuroendocrine tumors and the treatment of nonsteroidal anti-inflammatory drugs. It provides a feasible theoretical basis for further research on pituitary neuroendocrine tumors and explores potential therapeutic targets.

A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report

Background17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet.Case presentationCase I presents a 24-year-old Caucasian Israeli-Arab female who experienced 6 years of infertility. Before her initial visit to our clinic, she underwent three laparoscopic ovarian cystectomies, had an unsuccessful in vitro fertilization cycle, and was treated with combined oral contraceptives. Her hormonal profile was tested, and the results led to genetic counseling and the diagnosis of non-classical congenital adrenal hyperplasia. She was treated with estradiol, glucocorticoids, and transdermal testosterone. After hormonal levels were lowered, in vitro fertilization cycles were initiated, and the patient had a spontaneous ovulation. In case II, a 20-year-old Caucasian Israeli-Arab female presented for infertility evaluation owing to her oligomenorrhea. Her vitals and physical examination had normal results. The investigation of her abnormal hormonal profile led her to be referred to genetic testing, where the results showed the same genetic mutation as seen in case I.ConclusionBoth cases highlight the distinctiveness of the condition, where an identical mutation in the gene responsible for the same enzyme can bring about diverse phenotypes. Case I offers a potential treatment protocol for this rare disorder.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

Allan-Herndon-Dudley syndrome (AHDS) results from a pathogenic variant in the hemizygous subunit of the SLC16A2 gene, which encodes monocarboxylate transporter 8 and follows an X-linked recessive pattern. AHDS manifests as neuropsychomotor developmental delay, intellectual disability, movement disorders, and thyroid hormone abnormalities. It is frequently misdiagnosed as cerebral palsy or hypothyroidism. A 9-month-old male infant exhibited poor head control, hypodynamia, motor retardation, hypertonic limbs, and thyroid abnormalities. Despite levothyroxine supplementation and rehabilitation therapy, no improvements were observed. Whole-exome sequencing identified a novel nonsense mutation in SLC16A2 (c.124G > T, p.E42X), which unequivocally established the diagnosis. AHDS was confirmed. Levothyroxine treatment commenced early in infancy, followed by 3 months of rehabilitation therapy, starting at 5 months of age. The combined administration of levothyroxine and methimazole was initiated at 1 year and 10 months of age, respectively. While improvements were noted in thyroid hormone levels, neurological developmental delays persisted. AHDS should be considered in patients presenting with atypical neurological features and thyroid hormone abnormalities such as elevated triiodothyronine and decreased thyroxine levels. The early utilization of exome sequencing aids in prompt diagnosis. The identified SLC16A2 nonsense mutation correlates with severe neurological phenotypes and adds to the spectrum of genetic variations associated with AHDS.

Obesity and Male Fertility: An In-Depth Review of the Impact of Elevated BMI

This paper discusses the complex relationship between obesity and male infertility in a detailed manner. According to the introduction, obesity-related infertility is importantly discussed since it affects some 15% of couples in which half cases are attributed for obesity-related infertility is important to discuss since it affects some 15% of couples, and half of cases are attributed to male factors. The body of the analysis discusses various factors related to obesity-associated male reproduction implications, including endocrinopathies insulin sensitivity, sperm DNA fragmentation, erectile dysfunction OSAS asshened semen characteristics chronic epididymitis and epigenetic changes. The above discussion on endocrinopathies shows that excessive white adipose tissues derail the HPG axis, triggering hormonal imbalances which lead to infertility. This paper explains the interaction between insulin resistance and testosterone levels in type 2 diabetes affected men. The paper also focuses on sperm DNA fragmentation, showing the association between obesity and increased levels of sperm DNA damage, mitochondrial dysfunction and abnormality in morphology. Erectile dysfunction is focused on obesity-induced oxidative stress, inflammation and hormonal abnormalities that impair male reproductive function. Additionally, the role of sleep apnea in testosterone secretion and possible association between its severity to lower level of this hormone are presented. There is a further discussion of altered sperm traits, chronic epididymitis and epigenetic changes with regard to the obesity which gives us a broad perspective on male fertility. The paper then concludes its discussion regarding weight loss interventions restoring fertility, focusing on diet and exercise as means for reducing certain parameters associated with modifiable inflammatory markers linked to infertility. In summary, the general assessment highlights that obesity management is crucial in male infertility.